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DO Term : episodic kinesigenic dyskinesia 1 [DOID:0090053] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A dystonia characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the proline-rich transmembrane protein 2 gene (PRRT2) on chromosome 16p11.
  • synonyms:
  • ORDO:98809,
  • OMIM:128200,
  • ICD10CM:G24.8,
  • Paroxysmal kinesigenic choreoathetosis,
  • GARD:8721,
  • 128200
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Ontology Term --> Direct children

Ontology Term --> Direct parents